Highly Performing Automatic Detection of Structural Chromosomal Abnormalities Using Siamese Architecture.

The detection of structural chromosomal abnormalities (SCA) is crucial for diagnosis, prognosis and management of many genetic diseases and cancers. This detection, done by highly qualified medical experts, is tedious and time-consuming. We propose a highly performing and intelligent method to assist cytogeneticists to screen for SCA. Each chromosome is present in two copies that make up a pair of chromosomes. Usually, SCA are present in only one copy of the pair. Convolutional neural networks (CNN) with Siamese architecture are particularly relevant for evaluating similarities between two images, which is why we used this method to detect abnormalities between both chromosomes of a given pair. As a proof-of-concept, we first focused on a deletion occurring on chromosome 5 (del(5q)) observed in hematological malignancies. Using our dataset, we conducted several experiments without and with data augmentation on seven popular CNN models. Overall, performances obtained were very relevant for detecting deletions, particularly with Xception and InceptionResNetV2 models achieving 97.50% and 97.01% of F1-score, respectively. We additionally demonstrated that these models successfully recognized another SCA, inversion inv(3), which is one of the most difficult SCA to detect. The performance improved when the training was applied on inversion inv(3) dataset, achieving 94.82% of F1-score. The technique that we propose in this paper is the first highly performing method based on Siamese architecture that allows the detection of SCA. Our code is publicly available at: https://github.com/MEABECHAR/ChromosomeSiameseAD.

Unsupervised Learning of Disentangled Representation via Auto-Encoding: A Survey.

In recent years, the rapid development of deep learning approaches has paved the way to explore the underlying factors that explain the data. In particular, several methods have been proposed to learn to identify and disentangle these underlying explanatory factors in order to improve the learning process and model generalization. However, extracting this representation with little or no supervision remains a key challenge in machine learning. In this paper, we provide a theoretical outlook on recent advances in the field of unsupervised representation learning with a focus on auto-encoding-based approaches and on the most well-known supervised disentanglement metrics. We cover the current state-of-the-art methods for learning disentangled representation in an unsupervised manner while pointing out the connection between each method and its added value on disentanglement. Further, we discuss how to quantify disentanglement and present an in-depth analysis of associated metrics. We conclude by carrying out a comparative evaluation of these metrics according to three criteria, (i) modularity, (ii) compactness and (iii) informativeness. Finally, we show that only the Mutual Information Gap score (MIG) meets all three criteria.